Canonical Allele Identifier: CA403633795

Gene: C3

Linked Data

• dbSNP Id: rs1241974617
• gnomAD v3: 19-6697675-A-T
• gnomAD v4: 19-6697675-A-T
• MyVariant Identifiers: chr19:g.6697686A>T (hg19) ; chr19:g.6697675A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697675A>T , CM000681.2:g.6697675A>T	GRCh38
NC_000019.9:g.6697686A>T , CM000681.1:g.6697686A>T	GRCh37
NC_000019.8:g.6648686A>T	NCBI36
NG_009557.1:g.27977T>A , LRG_27:g.27977T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.908T>A
ENST00000695652.1:c.2437T>A	ENSP00000512083.1:p.Tyr813Asn
ENST00000695653.1:c.469T>A	ENSP00000512084.1:p.Tyr157Asn
ENST00000695654.1:c.1684T>A	ENSP00000512085.1:p.Tyr562Asn
ENST00000695655.1:c.1501T>A	ENSP00000512086.1:n.1501T>A
ENST00000695692.1:n.1924T>A
ENST00000245907.11:c.2560T>A MANE Select	ENSP00000245907.4:p.Tyr854Asn
ENST00000245907.10:c.2560T>A	ENSP00000245907.4:p.Tyr854Asn
ENST00000594005.1:n.41T>A
ENST00000602053.1:n.608T>A
NM_000064.3:c.2560T>A	NP_000055.2:p.Tyr854Asn
NM_000064.4:c.2560T>A MANE Select	NP_000055.2:p.Tyr854Asn